PsyMuKB

PsyMuKB catalogs and integrates de novo variants (DNVs) with multi-omic annotations to support interpretation of DNVs in developmental and neuropsychiatric disorders.

Key Features:

• Comprehensive Data Integration: Integrates large-scale genomic and proteomic datasets including developmental brain expression, neuronal single-cell transcriptomes, regulatory elements, transcript annotations, protein–protein interactions (PPI), and protein isoform expression.
• Isoform-Level Analysis: Provides transcriptional and translational annotations to enable isoform-specific interpretation of variants and address alternative splicing in the brain.
• Querying and Annotation Outputs: Supports queries by gene or variant and returns tabular annotations and visualizations such as expression patterns, transcript genomic structures, PPI networks, isoform expressions, and mutation sites mapped onto protein structures.

Scientific Applications:

• DNV interpretation in developmental and neuropsychiatric disorders: Facilitates annotation and cross-reference of DNVs to prioritize variants implicated in autism spectrum disorder, intellectual disability, and related conditions.
• Isoform-specific impact assessment: Enables assessment of variant effects at the isoform level to distinguish gene-level versus isoform-level pathogenicity.
• Tissue- and cell-type-specific variant prioritization: Uses developmental brain and neuronal single-cell expression data to identify tissue- or cell-type-specific DNVs for downstream study.
• Functional follow-up and mechanistic inference: Combines transcript, protein, and interaction annotations to support selection of variants for experimental validation and mechanistic investigation.

Methodology:

Careful curation of DNV data and integration of genomic and proteomic datasets, linking variants with transcriptional and translational annotations and mapping mutation sites onto protein structures.